1. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Issue 10 (15th August 2013) Authors: Savoldi, Gianfranco; Izzi, Claudia; Signorelli, Marino; Bondioni, Maria Pia; Romani, Chiara; Lanzi, Gaetana; Moratto, Daniele; Verdoni, Lucio; Pinotti, Moira; Prefumo, Federico; Superti‐Furga, Andrea; Pilotta, Alba Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗